Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.
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| Title: | Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene. |
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| Authors: | Malaichamy S; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada., Polavarapu K; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada., Thompson R; Children's Hospital of Eastern Ontario, Ottawa, Canada., Idoux R; Children's Hospital of Eastern Ontario, Ottawa, Canada., Spendiff S; Children's Hospital of Eastern Ontario, Ottawa, Canada., Karcagi V; Molecular Genetic Laboratory, Istenhegyi Genetic Diagnostic Centre, Budapest, Hungary., Herczegfalvi A; Faculty of Medicine, Pediatric Center, Tűzoltó Street Department, Semmelweis University, Budapest, Hungary., Almomen M; Department of Pediatric Neurology, Neuroscience Center, King Fahd Specialist Hospital, Dammam, Saudi Arabia., Scola RH; Complexo Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, Brazil., Lorenzoni PJ; Complexo Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, Brazil., Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Zambon AA; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Camelo CG; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil., Estephan EP; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Department of Neurological Sciences, Psychiatry, and Medical Psychology, Sao Jose do Rio Preto State Medical School, Sao Jose do Rio Preto, São Paulo, Brazil., Geetha TS; Medgenome Labs Limited, Bangalore, India., Ramprasad VL; Medgenome Labs Limited, Bangalore, India., Vengalil S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Nashi S; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Keerthipriya M; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Baskar D; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Preethish-Kumar V; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Kotambail A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Muhmann D; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany., Schara-Schmidt U; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany., Laurie S; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Matalonga L; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Beltran S; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia I Estadistica, Facultat De Biologia, Universitat de Barcelona, Barcelona, Spain., Roos A; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany.; Department of Neurology With Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Bochum, Germany., Barić I; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia., Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Lochmüller H; Children's Hospital of Eastern Ontario, Ottawa, Canada. hlochmuller@toh.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada. hlochmuller@toh.ca.; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain. hlochmuller@toh.ca.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada. hlochmuller@toh.ca.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. hlochmuller@toh.ca.; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany. hlochmuller@toh.ca. |
| Source: | Journal of neurology [J Neurol] 2026 Jul 20; Vol. 273 (8). Date of Electronic Publication: 2026 Jul 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42474733 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Malaichamy+S%22">Malaichamy S</searchLink>; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Polavarapu+K%22">Polavarapu K</searchLink>; Children's Hospital of Eastern Ontario, Ottawa, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Thompson+R%22">Thompson R</searchLink>; Children's Hospital of Eastern Ontario, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Idoux+R%22">Idoux R</searchLink>; Children's Hospital of Eastern Ontario, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Spendiff+S%22">Spendiff S</searchLink>; Children's Hospital of Eastern Ontario, Ottawa, Canada.<br /><searchLink fieldCode="AU" term="%22Karcagi+V%22">Karcagi V</searchLink>; Molecular Genetic Laboratory, Istenhegyi Genetic Diagnostic Centre, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Herczegfalvi+A%22">Herczegfalvi A</searchLink>; Faculty of Medicine, Pediatric Center, Tűzoltó Street Department, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22Almomen+M%22">Almomen M</searchLink>; Department of Pediatric Neurology, Neuroscience Center, King Fahd Specialist Hospital, Dammam, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Scola+RH%22">Scola RH</searchLink>; Complexo Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Lorenzoni+PJ%22">Lorenzoni PJ</searchLink>; Complexo Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Zanoteli+E%22">Zanoteli E</searchLink>; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Zambon+AA%22">Zambon AA</searchLink>; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Camelo+CG%22">Camelo CG</searchLink>; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Estephan+EP%22">Estephan EP</searchLink>; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Department of Neurological Sciences, Psychiatry, and Medical Psychology, Sao Jose do Rio Preto State Medical School, Sao Jose do Rio Preto, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Geetha+TS%22">Geetha TS</searchLink>; Medgenome Labs Limited, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Ramprasad+VL%22">Ramprasad VL</searchLink>; Medgenome Labs Limited, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Vengalil+S%22">Vengalil S</searchLink>; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Nashi+S%22">Nashi S</searchLink>; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Keerthipriya+M%22">Keerthipriya M</searchLink>; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Baskar+D%22">Baskar D</searchLink>; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Preethish-Kumar+V%22">Preethish-Kumar V</searchLink>; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Kotambail+A%22">Kotambail A</searchLink>; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Muhmann+D%22">Muhmann D</searchLink>; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Schara-Schmidt+U%22">Schara-Schmidt U</searchLink>; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Laurie+S%22">Laurie S</searchLink>; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Matalonga+L%22">Matalonga L</searchLink>; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Beltran+S%22">Beltran S</searchLink>; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia I Estadistica, Facultat De Biologia, Universitat de Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Roos+A%22">Roos A</searchLink>; Department of Neuropediatrics, University Hospital Essen, University of Duisburg, Essen, Germany.; Department of Neurology With Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Barić+I%22">Barić I</searchLink>; Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.<br /><searchLink fieldCode="AU" term="%22Nalini+A%22">Nalini A</searchLink>; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India.<br /><searchLink fieldCode="AU" term="%22Lochmüller+H%22">Lochmüller H</searchLink>; Children's Hospital of Eastern Ontario, Ottawa, Canada. hlochmuller@toh.ca.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Canada. hlochmuller@toh.ca.; Centro Nacional De Análisis Genómico (CNAG), Barcelona, Spain. hlochmuller@toh.ca.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada. hlochmuller@toh.ca.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada. hlochmuller@toh.ca.; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany. hlochmuller@toh.ca. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220423161%22">Journal of neurology</searchLink> [J Neurol] 2026 Jul 20; Vol. 273 (8). <i>Date of Electronic Publication: </i>2026 Jul 20. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>0423161 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1459 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203405354%22">03405354 </searchLink><i>NLM ISO Abbreviation: </i>J Neurol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42474733 |
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